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https://www.readbyqxmd.com/read/27921213/pediatric-intracranial-primary-anaplastic-ganglioglioma
#1
Wolf Lüdemann, Rouzbeh Banan, Christian Hartmann, Helmut Bertalanffy, Concezio Di Rocco
BACKGROUND: Primary intracranial anaplastic gangliogliomas are rare tumors in the pediatric patient group. Most of them present with symptoms of elevated pressure or symptomatic epilepsy. Extraaxial location is far more common than axial location. On MRI examination, they mimic pilocytic astrocytomas. The outcome after surgery depends mainly on the possible amount of surgical resection, and oncological therapy is necessary to prevent recurrence of the disease. CASE REPORT: An 11-year-old boy presented with headache and double vision due to obstructive hydrocephalus...
December 5, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27918961/the-promise-of-subtraction-ictal-spect-co-registered-to-mri-for-improved-seizure-localization-in-pediatric-epilepsies-affecting-factors-and-relationship-to-the-surgical-outcome
#2
Catherine Stamoulis, Nishant Verma, Himanshu Kaulas, Jonathan J Halford, Frank H Duffy, Phillip L Pearl, S Ted Treves
OBJECTIVE: Ictal SPECT is promising for accurate non-invasive localization of the epileptogenic brain tissue in focal epilepsies. However, high quality ictal scans require meticulous attention to the seizure onset. In a relatively large cohort of pediatric patients, this study investigated the impact of the timing of radiotracer injection, MRI findings and seizure characteristics on ictal SPECT localizations, and the relationship between concordance of ictal SPECT, scalp EEG and resected area with seizure freedom following epilepsy surgery...
November 30, 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27916450/dramatic-response-after-functional-hemispherectomy-in-a-patient-with-epileptic-encephalopathy-carrying-a-de-novo-col4a1-mutation
#3
Naomi Hino-Fukuyo, Atsuo Kikuchi, Masaki Iwasaki, Yuko Sato, Yuki Kubota, Tomoko Kobayashi, Tojo Nakayama, Kazuhiro Haginoya, Natsuko Arai-Ichinoi, Tetsuya Niihori, Ryo Sato, Tasuku Suzuki, Hiroki Kudo, Ryo Funayama, Keiko Nakayama, Yoko Aoki, Shigeo Kure
We describe the first case of a successful functional hemispherectomy in a patient with epileptic encephalopathy and a de novo collagen type IV alpha 1 (COL4A1) mutation. A 4-year-old girl was COL4A1 mutation-positive and suffered from drug-resistant epilepsy, hemiplegia, and developmental delay. Magnetic resonance imaging detected no porencephaly, and she had no cataract or renal abnormality. Following a presurgical evaluation for epilepsy, she underwent a functional hemispherectomy. She has been seizure free with no intracranial hemorrhage or other perioperative complications...
December 1, 2016: Brain & Development
https://www.readbyqxmd.com/read/27903293/personalized-medicine-approach-confirms-a-milder-case-of-abat-deficiency
#4
A Besse, A K Petersen, J V Hunter, V Appadurai, S R Lalani, P E Bonnen
ABAT deficiency (OMIM 613163) is a rare inborn error of metabolism caused by recessive variants in the gene 4-aminobutyric acid transaminase (ABAT), which is responsible for both the catalysis of GABA and maintenance of nucleoside pools in the mitochondria. To date, only a few patients have been reported worldwide. Their clinical presentation has been remarkably consistent with primary features of severe psychomotor retardation, encephalopathy, hypotonia, and infantile-onset refractory epilepsy. We report a new case of ABAT deficiency that marks an important departure from previous clinical findings...
December 1, 2016: Molecular Brain
https://www.readbyqxmd.com/read/27891434/abdominal-epilepsy-in-an-adult-a-diagnosis-often-missed
#5
Devavrat G Harshe, Sneha D Harshe, Gurudas R Harshe, Gayatri G Harshe
Abdominal Epilepsy (AE) is a variant of temporal lobe epilepsy and is commonly seen in pediatric age group. There are however, multiple reports of abdominal epilepsy in adolescents and even in adults. Chronic and recurrent gastrointestinal symptoms with one or more neuropsychiatric manifestations are often the presenting picture for a patient with AE. Such patients therefore, are more likely to consult a general practioner, a physician, a surgeon or a gastroenterologist than consulting a psychiatrist or a neurologist...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27889834/antiepileptic-drug-use-in-italian-children-over-a-decade
#6
Daria Putignano, Antonio Clavenna, Rita Campi, Angela Bortolotti, Ida Fortino, Luca Merlino, Aglaia Vignoli, Maria Paola Canevini, Maurizio Bonati
PURPOSE: The aim of the study was to evaluate prescription profiles of antiepileptic drugs (AEDs) and to assess hospitalizations and specialist visits in pediatric patients with epilepsy. METHODS: The data sources were administrative health databases of Italy's Lombardy Region, which collect prescriptions for drugs, diagnostic tests, specialist visits, and hospital discharge forms. All patients aged 0-16 years with at least seven AED (group N03A of the International Anatomical Therapeutic Chemical Classification) prescriptions over two consecutive years between 2003 and 2010 were identified and classified as prevalent or incident cases (no prescriptions in two previous years)...
November 26, 2016: European Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/27885945/clinical-imaging-and-immunohistochemical-characteristics-of-focal-cortical-dysplasia-type-ii-extratemporal-epilepsies-in-children-analyses-of-an-institutional-case-series
#7
Friederike Knerlich-Lukoschus, Mary B Connolly, Glenda Hendson, Paul Steinbok, Christopher Dunham
OBJECTIVE Focal cortical dysplasia (FCD) Type II is divided into 2 subgroups based on the absence (IIA) or presence (IIB) of balloon cells. In particular, extratemporal FCD Type IIA and IIB is not completely understood in terms of clinical, imaging, biological, and neuropathological differences. The aim of the authors was to analyze distinctions between these 2 formal entities and address clinical, MRI, and immunohistochemical features of extratemporal epilepsies in children. METHODS Cases formerly classified as Palmini FCD Type II nontemporal epilepsies were identified through the prospectively maintained epilepsy database at the British Columbia Children's Hospital in Vancouver, Canada...
November 25, 2016: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/27876179/prevalence-and-risk-factors-of-peri-ictal-autonomic-changes-in-children-with-temporal-lobe-seizures
#8
Mark Whealy, Elaine Wirrell, Lily Wong-Kisiel, Katherine Nickels, Eric T Payne
BACKGROUND: We determined the prevalence of signs and symptoms of autonomic dysfunction in seizures of temporal lobe onset in children. METHODS: We evaluated the prevalence and risk factors of peri-ictal autonomic changes in temporal lobe onset seizures in children from a single-center pediatric epilepsy monitoring unit between June 1, 2009 and October 31, 2013. Age, gender, epilepsy etiology, current antiepileptic drug therapy, ictal electroencephalographic lateralization, brain magnetic resonance imaging results, and the presence of generalized tonic-clonic seizures over the preceding year were recorded from medical record review...
October 11, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27871516/pediatric-patients-on-ketogenic-diet-undergoing-general-anesthesia-a-medical-record-review
#9
Elif Soysal, Heike Gries, Carter Wray
STUDY OBJECTIVE: To identify guidelines for anesthesia management and determine whether general anesthesia is safe for pediatric patients on ketogenic diet (KD). DESIGN: Retrospective medical record review. SETTING: Postoperative recovery area. PATIENTS: All pediatric patients who underwent general anesthesia while on KD between 2009 and 2014 were reviewed. We identified 24 patients who underwent a total of 33 procedures...
December 2016: Journal of Clinical Anesthesia
https://www.readbyqxmd.com/read/27870647/meg-may-reveal-hidden-population-of-spikes-in-epilepsy-with-porencephalic-cyst-encephalomalacia
#10
Yosuke Kakisaka, Zhong I Wang, Sumiya Shibata, Yoko Takahashi, John C Mosher, Andreas V Alexopoulos, Richard C Burgess
Porencephalic cyst/encephalomalacia (PC/E) is often associated with intractable epilepsy. A Limited number of studies reported Magnetoencephalography (MEG)'s potential to help construct treatment strategy for epilepsies associated with PC/E. We present here simultaneous EEG and MEG findings in three adult patients with pediatric-onset epilepsy due to PC/E. There were two types of spikes: one type was detected by MEG only (EEG-/MEG+), and the other detected by both EEG and MEG (EEG+/MEG+). Both types were seen in all three cases...
November 16, 2016: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/27864847/diagnostic-targeted-resequencing-in-349-patients-with-drug-resistant-pediatric-epilepsies-identifies-causative-mutations-in-30-different-genes
#11
Elena Parrini, Carla Marini, Davide Mei, Anna Galuppi, Elena Cellini, Daniela Pucatti, Laura Chiti, Domenico Rutigliano, Claudia Bianchini, Simona Virdò, Dalila De Vita, Stefania Bigoni, Carmen Barba, Francesco Mari, Martino Montomoli, Tiziana Pisano, Anna Rosati, Renzo Guerrini
Targeted resequencing gene panels are used in the diagnostic setting to identify gene defects in epilepsy. We performed targeted resequencing using a 30-genes panel and a 95-genes panel in 349 patients with drug-resistant epilepsies beginning in the first years of life. We identified 71 pathogenic variants, 42 of which novel, in 30 genes, corresponding to 20.3% of the probands. In 66% of mutation positive patients seizures onset occurred before age 6 months. The 95-genes panel allowed a genetic diagnosis in 22 (6...
November 19, 2016: Human Mutation
https://www.readbyqxmd.com/read/27859041/increased-subcortical-oligodendroglia-like-cells-in-pharmacoresistant-focal-epilepsy-in-children-correlate-with-extensive-epileptogenic-zones
#12
Satoru Sakuma, William C Halliday, Ruka Nomura, Shiro Baba, Yosuke Sato, Kazuo Okanari, Midori Nakajima, Elysa Widjaja, Cyrus Boelman, Ayako Ochi, O Carter Snead, James T Rutka, James Drake, Steven Miller, Hiroshi Otsubo
OBJECTIVE: Cortical resections in epilepsy surgery tend to involve multiple lobes in children, compared to adults, partly due to underlying pathology. Oligodendroglia-like cells (OLCs) have been observed in surgical specimens from children with pharmacoresistant epilepsy. We hypothesize that OLCs recruit multiple-lobe epileptogenic zones in pediatric pharmacoresistant focal epilepsy. METHODS: We examined the surgical specimens from 30 children who underwent epilepsy surgery (1...
November 8, 2016: Epilepsia
https://www.readbyqxmd.com/read/27859038/duration-of-use-of-oral-cannabis-extract-in-a-cohort-of-pediatric-epilepsy-patients
#13
Lauren Treat, Kevin E Chapman, Kathryn L Colborn, Kelly G Knupp
OBJECTIVE: Oral cannabis extracts (OCEs) are being used in the treatment of epilepsy with increasing rates in the United States following product legalization; however, no studies demonstrate clear efficacy. We evaluated the duration of use of OCEs as a measure of perceived benefit in a cohort of patients with pediatric epilepsy. METHODS: Retrospective chart review was performed of children and adolescents who were given OCEs for treatment of epilepsy. RESULTS: Of the 119 patients included in the analysis, 71% terminated use of their OCE product during the study period...
November 18, 2016: Epilepsia
https://www.readbyqxmd.com/read/27857784/pyridoxine-dependent-convulsions-among-children-with-refractory-seizures-a-3-year-follow-up-study
#14
Sadanandavalli Retnaswami Chandra, Thomas Gregor Issac, Sai Deepak, Ravi Teja, Seby Kuruthukulangara
INTRODUCTION: Epilepsy accounts for 1% of the global disease burden and about 8-10 million epilepsy patients live in India. About 30-40% of these patients become drug-resistant and land up with palliative or disease-modifying surgeries. This is a situation causing great concern in view of the psychosocial and economic burden on the patient and the family apart from severe cognitive and motor consequences, especially in children. Therefore, it is mandatory to have an insight into the wide spectrum of causes with reference to refractoriness to antiepileptic medications in children with epilepsy...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27856333/novel-homozygous-missense-mutation-in-aldh7a1-causes-neonatal-pyridoxine-dependent-epilepsy
#15
Emanuele G Coci, Luca Codutti, Christian Fink, Sophie Bartsch, Gunnar Grüning, Thomas Lücke, Ingo Kurth, Joachim Riedel
Pyridoxine dependent epilepsy (PDE) (OMIM#266100) is a neonatal form of epilepsy, caused by dysfunction of the enzyme α-aminoadipic semialdehyde dehydrogenase (ALDH7A1 or Antiquitin). This enzyme converts α-aminoadipic semialdehyde (α-AASA) into α-aminoadipate (AAA), a critical step in the lysine metabolism of the brain. ALDH7A1 dysfunction causes an accumulation of α-AASA and δ(1)-piperideine-6-carboxylic acid (P6C), which are in equilibrium with each other. P6C binds and inactivates pyridoxal 5'-phosphate (PLP), the active form of pyridoxine...
November 14, 2016: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/27855438/how-to-prevent-depression-current-directions-and-future-challenges-in-children-with-chronic-medical-conditions
#16
Anna Felnhofer, Oswald D Kothgassner, Claudia Klier
With its high rates of chronicity and concomitant economic costs to society, depression ranges among the most prevalent mental disorders. Several trials have succeeded in demonstrating the beneficial effects of early depression prevention programs for otherwise healthy children and adolescents. However, comparable programs for children and adolescents with a medical condition are still scarce. This paper discusses the situation of chronically ill children and adolescents who are at risk of developing comorbid depressive symptoms using the example of three conditions frequently encountered in pediatric psychosomatic medicine: diabetes, epilepsy and inflammatory bowel disease (IBD)...
December 2016: Psychiatria Danubina
https://www.readbyqxmd.com/read/27855134/effects-of-ugt1a6-and-gabra1-on-standardized-valproic-acid-plasma-concentrations-and-treatment-effect-in-children-with-epilepsy-in-china
#17
Weixing Feng, Shenghui Mei, Leting Zhu, Yazhen Yu, Weili Yang, Baoqin Gao, Xiaojuan Wu, Zhigang Zhao, Fang Fang
BACKGROUND: Valproic acid (VPA) is a widely used antiepileptic drug with acceptable safety and efficacy in treating pediatric patients with various kinds of seizures. However, interindividual variations in plasma concentrations and treatment effects of patients with epilepsy treated with VPA are observed. This study aimed to evaluate the effects of various genetic variations on normalized plasma concentration of VPA (NCVPA) and the treatment response in Chinese children with epilepsy administered with VPA...
December 2016: Therapeutic Drug Monitoring
https://www.readbyqxmd.com/read/27852077/koolen-de-vries-syndrome-clinical-report-of-an-adult-and-literature-review
#18
Claudia Ciaccio, Chiara Dordoni, Marco Ritelli, Marina Colombi
Koolen-de Vries syndrome (KdS) is a rare genetic condition characterized by typical facial dysmorphisms, cardiac and renal defects, skeletal anomalies, developmental delay, and intellectual disability of variable level. It is caused by a 440-680-kb deletion in the 17q21.31 region, encompassing CRHR1, MAPT, IMP5, STH, and KANSL1, or by an intragenic KANSL1 mutation. The majority of the patients reported are pediatric or young adults, and long-term studies able to define the prognosis of the disease are lacking...
November 17, 2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27834621/repeat-surgery-for-focal-cortical-dysplasias-in-children-indications-and-outcomes
#19
Matthew F Sacino, Cheng-Ying Ho, Matthew T Whitehead, Amy Kao, Dewi Depositario-Cabacar, John S Myseros, Suresh N Magge, Robert F Keating, William D Gaillard, Chima O Oluigbo
OBJECTIVE Focal cortical dysplasia (FCD) is a common cause of medically intractable epilepsy that often may be treated by surgery. Following resection, many patients continue to experience seizures, necessitating a decision for further surgery to achieve the desired seizure outcomes. Few studies exist on the efficacy of reoperation for intractable epilepsy due to FCD in pediatric cohorts, including the definition of prognostic factors correlated with clinical benefit from further resection. METHODS The authors retrospectively analyzed the medical records and MR images of 22 consecutive pediatric patients who underwent repeat FCD resection after unsuccessful first surgery at the Children's National Health System between March 2005 and April 2015...
November 11, 2016: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/27832714/pharmacotherapy-in-pediatric-epilepsy-rational-drug-and-dose-selection
#20
Alberto Verrotti, Alessandra Piccorossi, Stefania Lasorella, Renato Tambucci
No abstract text is available yet for this article.
December 2016: Expert Opinion on Drug Metabolism & Toxicology
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